炎症性肠病 (IBD) 儿童出现噬血细胞性淋巴组织细胞增多症 (HLH)/巨噬细胞激活综合征 (MAS) 的报道仅是传闻。本研究旨在描述诊断为 IBD 和 HLH/MAS 的儿童的临床特征和结果。 IBD 和 HLH/MAS 特征、生化、微生物和遗传评估、治疗和结果的数据从意大利儿科 IBD 登记处收集，并使用描述性统计数据呈现。在 4643 名 IBD 患者中，18 名 (0.4%) 被诊断患有 HLH/MAS，其中 12 名患有溃疡性结肠炎，6 名患有克罗恩病。在 18 名患者中，7 名 (39%) 患有早发性 IBD，但 HLH/MAS 诊断时的中位年龄为 14.0 岁 (IQR 11.9-16.0)。半数患者在 HLH/MAS 诊断时患有活动性 IBD，11 名患者 (61%) 正在服用硫嘌呤，6 名患者 (33%) 正在服用抗 TNF 生物制剂。在 15 名 (83%) 患者中发现了感染触发因素。一名 (5%) 患者被诊断患有 XIAP 缺乏症。所有患者均停用硫嘌呤，5 名患者 (83.3%) 停用抗 TNF 生物制剂； 16 名 (80%) 患者因 HLH/MAS 接受类固醇治疗。三名 (17%) 患者 HLH/MAS 复发。在中位随访 2.7 年期间，没有患者出现淋巴瘤或死亡（IQR 0.8-4.4）。结论：HLH/MAS 主要影响早发性 IBD 儿童，但主要发生在青春期，在接受免疫抑制剂治疗期间感染后发生。尽管预后总体良好，但调查潜在的免疫缺陷至关重要。© 2024。作者获得 Springer-Verlag GmbH 德国（Springer Nature 旗下公司）的独家许可。

Hemophagocytic Lymphohistiocytosis (HLH)/Macrophage Activation Syndrome (MAS) in children with inflammatory bowel disease (IBD) has been reported only anecdotally. This study aimed at describing the clinical features and outcomes of children diagnosed with both IBD and HLH/MAS. Data on IBD and HLH/MAS characteristics, biochemical, microbiological and genetic assessments, treatments, and outcomes were collected from the Italian Pediatric IBD Registry and presented using descriptive statistics. Out of 4643 patients with IBD, 18 (0.4%) were diagnosed with HLH/MAS, including 12 with ulcerative colitis and 6 with Crohn disease. Among the 18 patients, 7 (39%) had early-onset IBD, but the median age at HLH/MAS diagnosis was 14.0 years (IQR 11.9-16.0). Half of the patients had active IBD at HLH/MAS diagnosis, 11 (61%) patients were on thiopurines, and 6 (33%) were on anti-TNF biologics. An infectious trigger was identified in 15 (83%) patients. One (5%) patients was diagnosed with XIAP deficiency. All patients discontinued thiopurines and 5 (83.3%) discontinued anti-TNF biologics; 16 (80%) patients received steroids for HLH/MAS. Three (17%) patients had a relapse of HLH/MAS. No patient developed lymphoma or died during a median follow-up of 2.7 years (IQR 0.8-4.4). Conclusions: HLH/MAS mainly affects children with early-onset IBD but primarily develops during adolescence, following an infection while on immunosuppressant treatment. Although the prognosis is generally favorable, it is crucial to investigate an underlying immune deficiency.© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.